Severe microcephaly

Gene: PHC1

Red List (low evidence)

PHC1 (polyhomeotic homolog 1)
EnsemblGeneIds (GRCh38): ENSG00000111752
EnsemblGeneIds (GRCh37): ENSG00000111752
OMIM: 602978, Gene2Phenotype
PHC1 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

Possible DD-G2P gene for Primary microcephaly, MIM:615414.
27 Feb 2017, 4:05 p.m.
Single case: Awad et al., 2013 (PMID:23418308) report a homozygous 2974C>T mutation (L992F) in the PHC1 gene in a 12-year-old girl and her 6-year-old brother born to related Saudi parents who were suffering from primary microcephaly.
27 Feb 2017, 4:05 p.m.
PHC1 is on the Expert list for MCPH (primary microcephaly) from Andrew Jackson but with the caution that only a single mutation or family is reported in the literature.
13 Dec 2016, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
  • Literature
Phenotypes
  • Autosomal recessive primary microcephaly (MCPH)
  • ?Microcephaly 11, primary, autosomal recessive, 615414
  • MCPH
  • primary microcephaly
OMIM
602978
Clinvar variants
Variants in PHC1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene PHC1 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PHC1 was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

PHC1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature